In order to be able to make any decisions about end-of-life in dementia, it is essential to have an early diagnosis. With this in mind I wanted to see if I could get a diagnosis myself. With a strong family history of early-onset Alzheimer’s disease I went to seek out a DNA test to establish if I have the “early-onset Alzheimer’s” gene. This, it would seem, is not at all easy. In this post I am tracking my quest for a diagnosis.

early October 2017
As I live in Västerbotten, Sweden, I first contact the academic hospital in Umeå. I leave a message with the online contact form. I wait two weeks for a response. Nothing. I call.

Mid October 2017
Calling the genetics department at Umeå Hospital. The receptionist is confused. I feel bad, my Swedish is poor. She refers me to speak with the professor that runs the genetics department. I call him, and leave a message. He gets back to me within the hour. I think he understands my request, but they don’t do any DNA testing for early-onset Alzheimer’s.

24 October 2017
I google search ways to get a DNA test done in another way. There are many postal DNA testing services. They test for some forms of dementia, but not early-onset Alzheimer’s disease. I find a promising link DIAN: A registry for Alzheimer research. From my experience, test subjects in academic studies are great to have. I contact them via email.

24 October 2017
In my google findings I come across “Erfolijn” a dutch institution that tests for genetic diseases. They have an interesting questionnaire, to see if you are ‘ready’ to even do a DNA test – the outcome can be life changing. I do the online questionnaire. Yes, they say, it is ok for me to talk to a clinical genetician, but I need to get a referral from my GP. As I don’t live in the Netherlands, I can’t get a referral. I email them and explain the situation.

25 October 2017
I get a response from DIAN. They refer me to their UK based arm, which makes sense, considering my PhD is taking place in England. I contact the Dementia Research Centre in the UK.

25 October 2017
Erfolijn send me a response. They want to know more details for my reason to get a DNA test. I tell them my reasons. They find them reasonable, and recommend I contact one of the academic hospitals in the Netherlands (VU Amsterdam, Erasmus MC or Radboud Alzheimer Centrum)

26 October 2017
I receive a response from the Dementia Research Centre. They wish to know my likelyhood of having the gene. I respond saying my mother and grandmother had it, but they need to have DNA proof. Impossible I respond, both my mother and grandmother are dead. The Dementia Research Centre had to regretfully inform me that they will not be able to help. I wonder how they would have ever recruited any participants in this chicken-and-egg scenario.

7 November 2017
I look into the various research undertaken at the academic hospitals in the Netherlands. I write Radboud first as I like the variety of research they do. I also contact VU Amsterdam.

8 November 2017
Response from Radboud. They cannot help. I may have been unclear in my request, I also mentioned my further PhD reserach, but they find “design is not their focus just now”.

10 November 2017
A response from VU Amsterdam. They would be happy to help, but stress the importance to have a detailed advisory conversation first. DNA testing can have huge impact on your life. They also recommend I should speak with my health insurance, the cost of such a test could be large.

13 November 2017
I write back to VU. That is wonderful I say. Could they give me an indication of cost? This could get complicated, as I am a Swedisch citizen.

13 November 2017
I receive an instant response. the cost would be about 1300 euro for the advise and about 1700 euro for the DNA test. This starts the quest on finding out how / where I could get an insurance to cover this.

16 November 2017
On recommendation of my Swedish colleagues I call the Swedish Health Centre to pose the question. I get a call back through the efficient, yet complicated, call back system. The lady I speak to recommends I ask a Swedish private health insurance. I call If insurance, after a long waiting time and a few transfers, the answer is ‘no’, they don’t cover ‘that sort of thing’.

23 November 2017
Received responses from various healthcare insurers in the Netherlands, it’s unanimous, you can not get a dutch healthcare insurance when you live abroad.

23 November 2017
Time to delve into the personal network – if the system doesn’t work it starts to depend on who you know or how much money you have. Asked friends to ask their doctor friends in Holland for advise. Also trying the funding route, perhaps my PhD sponsors have a pot of money I can tap into?

25 November 2017
The Dutch retired GP gave me another connection to follow up, a genetic specialist. Email sent, awaiting response.

30 November 2017
A visit from a professor from TU Delft at Umeå Institute of Design. She has worked in research with elderly and gives me connections to other people at TU Delft to talk to.

1 December 2017
Following up on TU Delft connections.

4 December 2017
I receive a response from TU Delft connection. Currently on holiday, but I can expect a response upon return.

11 December 2017
I receive a response from the retired GP’s genetic specialist connection. She warns me about the potential consequences of such a test, but trusts me to make a rational decision. She claims that there should be cross-European genetic testing that should be able to be insured by Swedish health insurance. I will try and go via the Swedish system again, and call the complicated call-back system again to try and make an appointment with the GP but the call back system is full for the day. Instead I call for phone advise on 1177. While I wait, I email an old family friend who is retired now, but used to be director of a main hospital in the Netherlands, perhaps he has some connections to follow up? When I make a connection with a nurse on 1177 I am advised to contact my GP. I guess I will try again tomorrow.

12 December 2017
Sadly, the family friend is also unable to help. i must try and connect with a local GP in Sweden. I keep forgetting to call or log-in early enough to be able to make an appointment.

White noise image from http://religionresearch.org/closer/files/2017/05/white-noise.jpg